Monogenic Diabetes in the Young, Pharmacogenetics and Relevance to Multifactorial Forms of Type 2 Diabetes

@article{citeulike:2801429, abstract = {Most valuable breakthroughs in the genetics of type 2 diabetes for the past two decades have arisen from candidate gene studies and familial linkage analysis of maturity-onset diabetes of the young (MODY), an autosomal dominant form of diabetes typically occurring before 25 years of age caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but presents genetic, metabolic and clinical heterogeneity. MODY can result from mutations in at least six different genes encoding the glucose sensor enzyme glucokinase and transcription factors that participate in a regulatory network essential for adult -cell function. Additional genes have been described in other discrete phenotypes or syndromic forms of diabetes. Whereas common variants in the MODY genes contribute very modestly to type 2 diabetes susceptibility in adults, major findings emerging from the advent of genome-wide association studies will deliver an increasing number of genes and new pathways for the pathological events of the disease. 10.1210/er.2007-0024}, author = {Vaxillaire, Martine and Froguel, Philippe }, citeulike-article-id = {2801429}, doi = {10.1210/er.2007-0024}, journal = {Endocr Rev}, keywords = {diabetes, tg2}, month = {May}, number = {3}, pages = {254--264}, posted-at = {2008-05-15 13:04:28}, priority = {2}, title = {Monogenic Diabetes in the Young, Pharmacogenetics and Relevance to Multifactorial Forms of Type 2 Diabetes}, url = {http://dx.doi.org/10.1210/er.2007-0024}, volume = {29}, year = {2008} }

TY - JOUR ID - citeulike:2801429 L3 - citeulike-article-id:2801429 TI - Monogenic Diabetes in the Young, Pharmacogenetics and Relevance to Multifactorial Forms of Type 2 Diabetes JF - Endocr Rev VL - 29 IS - 3 SP - 254 EP - 264 N2 - Most valuable breakthroughs in the genetics of type 2 diabetes for the past two decades have arisen from candidate gene studies and familial linkage analysis of maturity-onset diabetes of the young (MODY), an autosomal dominant form of diabetes typically occurring before 25 years of age caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but presents genetic, metabolic and clinical heterogeneity. MODY can result from mutations in at least six different genes encoding the glucose sensor enzyme glucokinase and transcription factors that participate in a regulatory network essential for adult -cell function. Additional genes have been described in other discrete phenotypes or syndromic forms of diabetes. Whereas common variants in the MODY genes contribute very modestly to type 2 diabetes susceptibility in adults, major findings emerging from the advent of genome-wide association studies will deliver an increasing number of genes and new pathways for the pathological events of the disease. 10.1210/er.2007-0024 KW - diabetes KW - tg2 AU - Vaxillaire, Martine AU - Froguel, Philippe PY - 2008/05/01/ UR - http://dx.doi.org/10.1210/er.2007-0024 ER -